Reviewed,
UniProtKB/Swiss-Prot Q693B1 (KCD11_HUMAN)
Last modified
November 25, 2008.
Version 35.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: BTB/POZ domain-containing protein KCTD11 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 232 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Play a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcrition factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade. |
| Tissue specificity | Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma. |
| Domain | The BTB domain is required for growth-suppressing properties. |
| Involvement in disease | Haploinsufficiency of KCTD11 may be a cause of development of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. An allelic deletion involving genes from chromosome region 17p11.2-pter, sometimes restricted to 17p13.2-13.3, occurs in up to 50% of MDB. |
| Sequence similarities | Contains 1 BTB (POZ) domain. |
Ontologies
Keywords | |
|---|---|
| Biological process | Cell cycle Growth regulation |
| Coding sequence diversity | Polymorphism |
| Molecular function | Anti-oncogene Developmental protein |
Gene Ontology (GO) | |
| Biological process | negative regulation of cell cycle Inferred from electronic annotation. Source: UniProtKB-KW potassium ion transportInferred from electronic annotation. Source: InterPro regulation of cell growthInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | voltage-gated potassium channel complex Inferred from electronic annotation. Source: InterPro |
| Molecular function | protein binding Inferred from electronic annotation. Source: InterPro voltage-gated potassium channel activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma." Di Marcotullio L., Ferretti E., De Smaele E., Argenti B., Mincione C., Zazzeroni F., Gallo R., Masuelli L., Napolitano M., Maroder M., Modesti A., Giangaspero F., Screpanti I., Alesse E., Gulino A. Proc. Natl. Acad. Sci. U.S.A. 101:10833-10838(2004) [PubMed: 15249678] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, CHARACTERIZATION OF BTB DOMAIN, DISEASE. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
Cross-references
Sequence databases | |
|---|---|
| AY646650 mRNA. Translation: AAT75307.1. BC110598 mRNA. Translation: AAI10599.1. | |
| RefSeq | NP_001002914.1. |
| UniGene | Hs.592112 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q693B1. |
Genome annotation databases | |
| Ensembl | ENSG00000213859. Homo sapiens. [Contig view] |
| GeneID | 147040. |
| KEGG | hsa:147040. |
Organism-specific databases | |
| HGNC | HGNC:21302. KCTD11. |
| MIM | 609848. gene. |
| PharmGKB | PA134890547. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | Q693B1. |
Gene expression databases | |
| ArrayExpress | Q693B1. |
| CleanEx | HS_KCTD11. HS_REN. |
| GermOnline | ENSG00000072818. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR003131. K_chnl_volt-dep_Kv_tetra. [Graphical view] |
| Gene3D | G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit. |
| Pfam | PF02214. K_tetra. 1 hit. [Graphical view] |
| PROSITE | PS50097. BTB. False negative. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 85535. |
| SOURCE | Search... |
Entry information
| Entry name | KCD11_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q693B1 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


